Submissions for variant NM_030662.4(MAP2K2):c.846C>T (p.Pro282=)

gnomAD frequency: 0.00282  dbSNP: rs11539506

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen RASopathy Variant Curation Expert Panel	RCV000197348	SCV000616568	benign	RASopathy	2017-05-09	reviewed by expert panel	curation	The filtering allele frequency of the c.846C>T (p.Pro282=) variant in the MAP2K2 gene is 0.515% (46/6886) of Latino chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039496	SCV000063185	benign	not specified	2010-01-27	criteria provided, single submitter	clinical testing
Invitae	RCV000197348	SCV000252872	benign	RASopathy	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039496	SCV000314704	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000054	SCV000885673	benign	Cardiofaciocutaneous syndrome 4	2021-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001705638	SCV001863023	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813316	SCV002060582	benign	Noonan syndrome and Noonan-related syndrome	2021-05-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444458	SCV002677591	benign	Cardiovascular phenotype	2021-01-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001705638	SCV004141448	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	MAP2K2: BP4, BP7, BS1
Clinical Genetics, Academic Medical Center	RCV000039496	SCV001920492	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705638	SCV001958343	likely benign	not provided		no assertion criteria provided	clinical testing